Canonical Allele Identifier: CA497694077
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126980G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223661G>T , CM000679.2:g.7223661G>T GRCh38
NC_000017.10:g.7126980G>T , CM000679.1:g.7126980G>T GRCh37
NC_000017.9:g.7067704G>T NCBI36
NG_007975.1:g.8828G>T
NG_008391.2:g.1390C>A
NG_033038.1:g.15884C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1200G>T MANE Select ENSP00000349297.5:p.Val400=
ENST00000322910.9:c.*1155G>T ENSP00000325395.5:n.*1155G>T
ENST00000350303.9:c.1134G>T ENSP00000344152.5:p.Val378=
ENST00000356839.9:c.1200G>T ENSP00000349297.5:p.Val400=
ENST00000542255.6:c.58G>T
ENST00000543245.6:c.1269G>T ENSP00000438689.2:p.Val423=
ENST00000578579.2:n.371G>T
ENST00000578711.1:n.157G>T
ENST00000578824.5:n.616G>T
ENST00000579425.5:n.224G>T
ENST00000579546.1:c.37G>T
ENST00000583858.5:c.229G>T
ENST00000585203.6:n.408G>T
NM_000018.3:c.1200G>T NP_000009.1:p.Val400=
NM_001033859.2:c.1134G>T NP_001029031.1:p.Val378=
NM_001270447.1:c.1269G>T NP_001257376.1:p.Val423=
NM_001270448.1:c.972G>T NP_001257377.1:p.Val324=
XM_006721516.2:c.1200G>T XP_006721579.2:p.Val400=
XM_011523829.1:c.1200G>T XP_011522131.1:p.Val400=
XM_011523830.1:c.1200G>T XP_011522132.1:p.Val400=
XR_934021.1:n.1307G>T
XR_934022.1:n.1307G>T
XR_934023.1:n.1307G>T
XM_006721516.3:c.1200G>T XP_006721579.2:p.Val400=
XM_011523829.2:c.1200G>T XP_011522131.1:p.Val400=
XM_011523830.2:c.1200G>T XP_011522132.1:p.Val400=
XM_024450741.1:c.1200G>T XP_024306509.1:p.Val400=
XR_934021.2:n.1259G>T
XR_934022.2:n.1259G>T
XR_934023.2:n.1259G>T
NM_000018.4:c.1200G>T MANE Select NP_000009.1:p.Val400=
NM_001033859.3:c.1134G>T NP_001029031.1:p.Val378=
NM_001270447.2:c.1269G>T NP_001257376.1:p.Val423=
NM_001270448.2:c.972G>T NP_001257377.1:p.Val324=
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